2024年12月25日 · NPHP1 (Nephrocystin 1) is a Protein Coding gene. Diseases associated with NPHP1 include Senior-Loken Syndrome 1 and Nephronophthisis 1. Among its related pathways are Organelle biogenesis and maintenance and Loss of proteins required for interphase microtubule organization from the centrosome.

The NPHP1 Family Foundation is dedicated to funding the accelerated development of therapies that will preserve vision for children and adults impacted by NPHP1 retinal dystrophies. Support Research 90%

Nephrocystin-1 is a protein that in humans is encoded by the NPHP1 gene. [5] This gene encodes a protein with src homology domain 3 (SH3) patterns. Mutations in this gene cause familial juvenile nephronophthisis. [5] NPHP1 has been shown to interact with BCAR1, [6][7] PTK2B, [7] Filamin [8] and INVS. [9] ^ "Human PubMed Reference:".

The NPHP1 gene provides instructions for making the nephrocystin-1 protein. This protein is thought to play a role in cell structures called cilia, which are microscopic, finger-like projections that stick out from the surface of cells.

Biallelic deletions in the NPHP1 gene are the most frequent molecular defect of nephronophthisis, a kidney ciliopathy and leading cause of hereditary end-stage kidney disease. Nephrocystin 1, the gene product of NPHP1, is also expressed in photoreceptors where it …

2025年2月8日 · Title: NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy. Clinical and pathological features and varied mutational spectra of pathogenic genes in 55 Chinese patients with nephronophthisis.

肾单位消耗病（nephronophthisis，NPH），国内亦译为肾单位肾痨，是一种常染色体隐性遗传慢性小管间质性囊肿性肾病，是儿童和青少年终末期肾病（end-stage renal disease，ESRD）最主要的遗传病，在欧洲和北美分别占儿童ESRD的10%～25%和5%。 NPH患病率约为1/900 000～1/50 000，不同地区差异较大。 由于早期分子检测覆盖率低，这些数字难以反映真实的患病率。 近年一项纳入5 606例成人ESRD患者的多中心临床研究发现，仅 NPHP1 基因纯合缺失就占所有患者 …

2011年4月29日 · The presence of large homozygous deletions of approximately 250 kb (607100.0005) in the 2q13 region in most patients with juvenile nephronophthisis (NPHP1; 256100) allowed Saunier et al. (1997) to define a minimal deletion interval for the NPH1 gene. They established a BAC contig covering this interval.

2022年11月28日 · 肾消耗病 (Nephronophthisis，NPHP)，又称为肾单位肾痨是一种常染色体隐性遗传性肾病，是儿童和青少年遗传因素所致的终末期肾病 (end-stage renal disease，ESRD)最常见的原因之一。 “肾消耗病”名称来源于希腊语，意思是“正在消失的肾单位（disappearance of nephrons）”，以此描述肾脏发生囊肿，正常肾单位逐渐消失，并且肾脏间质发生纤维化的病理进展过程1（图1）。 肾消耗病的临床表现主要有多尿、多饮、继发性遗尿症和贫血等；根据其 …

NPHP1 genetic testing is important to diagnose patients with nephronophthisis, familial juvenile disease. Congenital ocular motor apraxia and Joubert syndrome found to have a compound heterozygous mutation in the NPHP1 gene that is responsible for juvenile nephronophthisis type 1.